Mutation Details for c.3G>A

cDNA Name

c.3G>A

Protein Name

p.Met1Ile

Exon or Intron

exon 1

Legacy Exon or Intron

exon 1

Legacy Name

M1I(ATA)

Other Details

This mutation lies on exon 1 in the initiation codon and at nucleotide position 135 G->A. Following the approved nomenclature, we have called this mutation M1I. M1I was detected by SSCP analysis followed by direct sequencing and has been confirmed by an N1a III restriction digest. This patient is aknown affected cystic fibrosis sufferer and carries the [delta]F508 mutation on the other chromosome. Unfortunately we do not have nay other clinical data on this patient at the present time.

Contributors

Axton RA,
Brock DJH
1994-03-30

Institute

University of Edinburgh
Edinburgh

Submitted Phenotype Details

Reference

Axton & Brock (NL#61)

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The Database was last updated at Apr 25, 2011